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1ic8
From Proteopedia
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(New page: 200px<br /> <applet load="1ic8" size="450" color="white" frame="true" align="right" spinBox="true" caption="1ic8, resolution 2.6Å" /> '''HEPATOCYTE NUCLEAR F...)
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Revision as of 15:22, 12 November 2007
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HEPATOCYTE NUCLEAR FACTOR 1A BOUND TO DNA : MODY3 GENE PRODUCT
Contents |
Overview
Mutations in Hnf-1alpha are the most common Mendelian cause of diabetes, mellitus. To elucidate the molecular function of a mutational hotspot, we, cocrystallized human HNF-1alpha 83-279 with a high-affinity promoter and, solved the structure of the complex. Two identical protein molecules are, bound to the promoter. Each contains a homeodomain and a second domain, structurally similar to POU-specific domains that was not predicted on the, basis of amino acid sequence. Atypical elements in both domains create a, stable interface that further distinguishes HNF-1alpha from other flexible, POU-homeodomain proteins. The numerous diabetes-causing mutations in, HNF-1alpha thus identified a previously unrecognized POU domain which was, used as a search model to identify additional POU domain proteins in, sequence databases.
Disease
Known diseases associated with this structure: Diabetes mellitus, insulin-dependent OMIM:[142410], Diabetes mellitus, noninsulin-dependent, 2 OMIM:[142410], Hepatic adenoma OMIM:[142410], MODY, type III OMIM:[142410]
About this Structure
1IC8 is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
Diabetes mutations delineate an atypical POU domain in HNF-1alpha., Chi YI, Frantz JD, Oh BC, Hansen L, Dhe-Paganon S, Shoelson SE, Mol Cell. 2002 Nov;10(5):1129-37. PMID:12453420
Page seeded by OCA on Mon Nov 12 17:28:40 2007
